(Q24338978)

25 June 2017

title

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss (English)

1 reference

Glutaredoxin and cysteine rich domain containing 2

25 June 2017

main subject

1 reference

GOA release 2020-03-11

hearing

1 reference

Glutaredoxin, cysteine rich 2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Sadaf Naz

3

0 references

author name string

Ayesha Imtiaz

series ordinal

1

1 reference

25 June 2017

David C Kohrman

series ordinal

2

1 reference

25 June 2017

language of work or name

English

0 references

publication date

7 April 2014

1 reference

25 June 2017

1 reference

25 June 2017

volume

35

1 reference

25 June 2017

issue

5

1 reference

25 June 2017

page(s)

618-624

1 reference

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

25 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

One step at a time: endoplasmic reticulum-associated degradation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Yeast phosducin-like protein 2 acts as a stimulatory co-factor for the folding of actin by the chaperonin CCT via a ternary complex.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Sticky fingers: zinc-fingers as protein-recognition motifs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Thioredoxin and glutaredoxin systems

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Automatic and quantitative measurement of protein-protein colocalization in live cells.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

A Rapid and Cost-Effective Protocol for Screening Known Genes for Autosomal Recessive Deafness

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

The LINC complex is essential for hearing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Children with sensorineural hearing loss after passing the newborn hearing screen

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

KinSNP software for homozygosity mapping of disease genes using SNP microarrays

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

Antioxidant function of thioredoxin and glutaredoxin systems

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123198

THRUMIN1 is a light-regulated actin-bundling protein involved in chloroplast motility.

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22545

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24619944

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22545

1 reference

25 June 2017

0 references

1 reference